Fragile X syndrome (Homo sapiens)

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Bibliography

1. Zhang L, Alger BE; ''Enhanced endocannabinoid signaling elevates neuronal excitability in fragile X syndrome.''; J Neurosci, 2010 PubMed Europe PMC Scholia
2. Yau SY, Bettio L, Chiu J, Chiu C, Christie BR; ''Fragile-X Syndrome Is Associated With NMDA Receptor Hypofunction and Reduced Dendritic Complexity in Mature Dentate Granule Cells.''; Front Mol Neurosci, 2018 PubMed Europe PMC Scholia
3. Karsten Schmidt; ''Analysis of the Structure and Function of Protein Phosphatase 2A ''; http://edoc.unibas.ch/diss/DissB_6695; Institutional Repository of the University of Basel, 2004 DOI Scholia
4. Denise Cook, Scott A. Cameron, Emma V. Jones; ''Fragile X Mental Retardation Protein: Regulator of Specific mRNAs or Master Regulator of Global Translation?''; Google Scholar, 2010 PubMed Europe PMC Scholia
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6. Liu B, Li L, Chen J, Wang Z, Li Z, Wan Q; ''Regulation of GABAA receptors by fragile X mental retardation protein.''; Int J Physiol Pathophysiol Pharmacol, 2013 PubMed Europe PMC Scholia
7. Hanley JG; ''The Regulation of AMPA Receptor Endocytosis by Dynamic Protein-Protein Interactions.''; Front Cell Neurosci, 2018 PubMed Europe PMC Scholia
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19. Robert Malenka; ''Intercellular Communication in the Nervous System''; Google Books, 2010
20. Kim SH, Markham JA, Weiler IJ, Greenough WT; ''Aberrant early-phase ERK inactivation impedes neuronal function in fragile X syndrome.''; Proc Natl Acad Sci U S A, 2008 PubMed Europe PMC Scholia
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22. Ishizuka A, Siomi MC, Siomi H; ''A Drosophila fragile X protein interacts with components of RNAi and ribosomal proteins.''; Genes Dev, 2002 PubMed Europe PMC Scholia
23. Ronesi JA, Collins KA, Hays SA, Tsai NP, Guo W, Birnbaum SG, Hu JH, Worley PF, Gibson JR, Huber KM; ''Disrupted Homer scaffolds mediate abnormal mGluR5 function in a mouse model of fragile X syndrome.''; Nat Neurosci, 2012 PubMed Europe PMC Scholia
24. Avruch J, Khokhlatchev A, Kyriakis JM, Luo Z, Tzivion G, Vavvas D, Zhang XF; ''Ras activation of the Raf kinase: tyrosine kinase recruitment of the MAP kinase cascade.''; Recent Prog Horm Res, 2001 PubMed Europe PMC Scholia
25. Guo W, Ceolin L, Collins KA, Perroy J, Huber KM; ''Elevated CaMKIIα and Hyperphosphorylation of Homer Mediate Circuit Dysfunction in a Fragile X Syndrome Mouse Model.''; Cell Rep, 2015 PubMed Europe PMC Scholia
26. Joseph Vithayathil, Joanna Pucilowska, Gary E. Landreth; ''ERK/MAPK signaling and autism spectrum disorders''; ScienceDirect, 2018 PubMed Europe PMC Scholia
27. Plotnikov A, Zehorai E, Procaccia S, Seger R; ''The MAPK cascades: signaling components, nuclear roles and mechanisms of nuclear translocation.''; Biochim Biophys Acta, 2011 PubMed Europe PMC Scholia
28. Westmark CJ, Malter JS; ''FMRP mediates mGluR5-dependent translation of amyloid precursor protein.''; PLoS Biol, 2007 PubMed Europe PMC Scholia
29. Bhakar AL, Dölen G, Bear MF; ''The pathophysiology of fragile X (and what it teaches us about synapses).''; Annu Rev Neurosci, 2012 PubMed Europe PMC Scholia
30. Ronesi JA, Huber KM; ''Homer interactions are necessary for metabotropic glutamate receptor-induced long-term depression and translational activation.''; J Neurosci, 2008 PubMed Europe PMC Scholia
31. Chen BS, Roche KW; ''Regulation of NMDA receptors by phosphorylation.''; Neuropharmacology, 2007 PubMed Europe PMC Scholia
32. Lu W, Ziff EB; ''PICK1 interacts with ABP/GRIP to regulate AMPA receptor trafficking.''; Neuron, 2005 PubMed Europe PMC Scholia
33. Li Y, Tang W, Zhang LR, Zhang CY; ''FMRP regulates miR196a-mediated repression of HOXB8 via interaction with the AGO2 MID domain.''; Mol Biosyst, 2014 PubMed Europe PMC Scholia
34. Sethna F, Moon C, Wang H; ''From FMRP function to potential therapies for fragile X syndrome.''; Neurochem Res, 2014 PubMed Europe PMC Scholia
35. Lai MM, Hong JJ, Ruggiero AM, Burnett PE, Slepnev VI, De Camilli P, Snyder SH; ''The calcineurin-dynamin 1 complex as a calcium sensor for synaptic vesicle endocytosis.''; J Biol Chem, 1999 PubMed Europe PMC Scholia
36. Paradee W, Melikian HE, Rasmussen DL, Kenneson A, Conn PJ, Warren ST; ''Fragile X mouse: strain effects of knockout phenotype and evidence suggesting deficient amygdala function.''; Neuroscience, 1999 PubMed Europe PMC Scholia
37. Lüscher C, Huber KM; ''Group 1 mGluR-dependent synaptic long-term depression: mechanisms and implications for circuitry and disease.''; Neuron, 2010 PubMed Europe PMC Scholia
38. Wang H, Kim SS, Zhuo M; ''Roles of fragile X mental retardation protein in dopaminergic stimulation-induced synapse-associated protein synthesis and subsequent alpha-amino-3-hydroxyl-5-methyl-4-isoxazole-4-propionate (AMPA) receptor internalization.''; J Biol Chem, 2010 PubMed Europe PMC Scholia
39. Ye K, Snyder SH; ''PIKE GTPase: a novel mediator of phosphoinositide signaling.''; J Cell Sci, 2004 PubMed Europe PMC Scholia
40. Weerasak Chonchaiya, Andrea Schneider, Randi J Hagerman; ''Fragile X: A Family of Disorders''; doi:10.1016/j.yapd.2009.08.008, 2010 PubMed Europe PMC Scholia
41. Xing Liu, Qin-Hua Gu, Kaizheng Duan, Zheng Li; ''NMDA Receptor-Dependent LTD Is Required for Consolidation But Not Acquisition of Fear Memory''; The Journal of Neurosicence, 2014 PubMed Europe PMC Scholia
42. Liu B, Li L, Chen J, Wang Z, Li Z, Wan Q; ''Regulation of GABAA receptors by fragile X mental retardation protein.''; Int J Physiol Pathophysiol Pharmacol, 2013 PubMed Europe PMC Scholia
43. Kim SW, Cho KJ; ''Activity-dependent alterations in the sensitivity to BDNF-TrkB signaling may promote excessive dendritic arborization and spinogenesis in fragile X syndrome in order to compensate for compromised postsynaptic activity.''; Med Hypotheses, 2014 PubMed Europe PMC Scholia
44. Bagni C, Tassone F, Neri G, Hagerman R; ''Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics.''; J Clin Invest, 2012 PubMed Europe PMC Scholia
45. Hou L, Antion MD, Hu D, Spencer CM, Paylor R, Klann E; ''Dynamic translational and proteasomal regulation of fragile X mental retardation protein controls mGluR-dependent long-term depression.''; Neuron, 2006 PubMed Europe PMC Scholia
46. Narayanan U, Nalavadi V, Nakamoto M, Thomas G, Ceman S, Bassell GJ, Warren ST; ''S6K1 phosphorylates and regulates fragile X mental retardation protein (FMRP) with the neuronal protein synthesis-dependent mammalian target of rapamycin (mTOR) signaling cascade.''; J Biol Chem, 2008 PubMed Europe PMC Scholia
47. Uzunova G, Hollander E, Shepherd J; ''The role of ionotropic glutamate receptors in childhood neurodevelopmental disorders: autism spectrum disorders and fragile x syndrome.''; Curr Neuropharmacol, 2014 PubMed Europe PMC Scholia
48. Jacinto E, Hall MN; ''Tor signalling in bugs, brain and brawn.''; Nat Rev Mol Cell Biol, 2003 PubMed Europe PMC Scholia
49. Watanabe M, Maemura K, Kanbara K, Tamayama T, Hayasaki H; ''GABA and GABA receptors in the central nervous system and other organs.''; Int Rev Cytol, 2002 PubMed Europe PMC Scholia
50. Gao F, Qi L, Yang Z, Yang T, Zhang Y, Xu H, Zhao H; ''Impaired GABA Neural Circuits Are Critical for Fragile X Syndrome.''; Neural Plast, 2018 PubMed Europe PMC Scholia
51. DaSilva LL, Wall MJ, P de Almeida L, Wauters SC, Januário YC, Müller J, Corrêa SA; ''Activity-Regulated Cytoskeleton-Associated Protein Controls AMPAR Endocytosis through a Direct Interaction with Clathrin-Adaptor Protein 2.''; eNeuro, 2016 PubMed Europe PMC Scholia
52. Kawaguchi K, Morita M; ''ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.''; Biomed Res Int, 2016 PubMed Europe PMC Scholia
53. Z G Goldsmith, D N Dhanasekaran; ''G Protein regulation of MAPK networks''; Nature, 2007 PubMed Europe PMC Scholia
54. Resh MD; ''Fyn, a Src family tyrosine kinase.''; Int J Biochem Cell Biol, 1998 PubMed Europe PMC Scholia
55. Song MS, Rossi JJ; ''Molecular mechanisms of Dicer: endonuclease and enzymatic activity.''; Biochem J, 2017 PubMed Europe PMC Scholia
56. Kong, Sek Won, Mustafa Sahin, Christin D. Collins, Mary H. Wertz, Malcolm G. Campbell, Jarrett D. Leech, Dilja Krueger, Mark F. Bear, Louis M. Kunkel, Isaac S. Kohane.; ''Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis''; https://doi.org/10.1186/2040-2392-5-16, 2014 DOI Scholia
57. Westmark CJ, Sokol DK, Maloney B, Lahiri DK; ''Novel roles of amyloid-beta precursor protein metabolites in fragile X syndrome and autism.''; Mol Psychiatry, 2016 PubMed Europe PMC Scholia
58. Hennig A, Markwart R, Esparza-Franco MA, Ladds G, Rubio I; ''Ras activation revisited: role of GEF and GAP systems.''; Biol Chem, 2015 PubMed Europe PMC Scholia
59. Porter K, Komiyama NH, Vitalis T, Kind PC, Grant SG; ''Differential expression of two NMDA receptor interacting proteins, PSD-95 and SynGAP during mouse development.''; Eur J Neurosci, 2005 PubMed Europe PMC Scholia
60. Westmark CJ; ''FMRP: a triple threat to PSD-95.''; Front Cell Neurosci, 2013 PubMed Europe PMC Scholia
61. Leboucher A, Pisani DF, Martinez-Gili L, Chilloux J, Bermudez-Martin P, Van Dijck A, Ganief T, Macek B, Becker JAJ, Le Merrer J, Kooy RF, Amri EZ, Khandjian EW, Dumas ME, Davidovic L; ''The translational regulator FMRP controls lipid and glucose metabolism in mice and humans.''; Mol Metab, 2019 PubMed Europe PMC Scholia
62. Kang SJ, Kaang BK; ''Metabotropic glutamate receptor dependent long-term depression in the cortex.''; Korean J Physiol Pharmacol, 2016 PubMed Europe PMC Scholia
63. Gingras AC, Kennedy SG, O'Leary MA, Sonenberg N, Hay N; ''4E-BP1, a repressor of mRNA translation, is phosphorylated and inactivated by the Akt(PKB) signaling pathway.''; Genes Dev, 1998 PubMed Europe PMC Scholia
64. Michael R. Santoro, Steven M. Bray, Stephen T. Warren; ''Molecular Mechanisms of Fragile X Syndrome: A Twenty-Year Perspective''; Google Scholar, 2012 PubMed Europe PMC Scholia
65. Hayashi MK, Tang C, Verpelli C, Narayanan R, Stearns MH, Xu RM, Li H, Sala C, Hayashi Y; ''The postsynaptic density proteins Homer and Shank form a polymeric network structure.''; Cell, 2009 PubMed Europe PMC Scholia
66. Hayashi MK, Tang C, Verpelli C, Narayanan R, Stearns MH, Xu RM, Li H, Sala C, Hayashi Y; ''The postsynaptic density proteins Homer and Shank form a polymericnetwork structure.''; Cell, 2009 PubMed Europe PMC Scholia
67. Huber KM, Klann E, Costa-Mattioli M, Zukin RS; ''Dysregulation of Mammalian Target of Rapamycin Signaling in Mouse Models of Autism.''; J Neurosci, 2015 PubMed Europe PMC Scholia
68. Goebel-Goody SM, Wilson-Wallis ED, Royston S, Tagliatela SM, Naegele JR, Lombroso PJ; ''Genetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model.''; Genes Brain Behav, 2012 PubMed Europe PMC Scholia
69. Yang T, Zhao H, Lu C, Li X, Xie Y, Fu H, Xu H; ''Synaptic Plasticity, a Prominent Contributor to the Anxiety in Fragile X Syndrome.''; Neural Plast, 2016 PubMed Europe PMC Scholia
70. Yun SH, Trommer BL; ''Fragile X mice: reduced long-term potentiation and N-Methyl-D-Aspartate receptor-mediated neurotransmission in dentate gyrus.''; J Neurosci Res, 2011 PubMed Europe PMC Scholia
71. Bear MF, Huber KM, Warren ST; ''The mGluR theory of fragile X mental retardation.''; Trends Neurosci, 2004 PubMed Europe PMC Scholia
72. Hansen Wang; ''Fragile X mental retardation protein: from autism to neurodegenerative disease''; Frontiersin, 2015 PubMed Europe PMC Scholia
73. Kelley DJ, Davidson RJ, Elliott JL, Lahvis GP, Yin JC, Bhattacharyya A; ''The cyclic AMP cascade is altered in the fragile X nervous system.''; PLoS One, 2007 PubMed Europe PMC Scholia
74. Henley JM, Wilkinson KA; ''AMPA receptor trafficking and the mechanisms underlying synaptic plasticity and cognitive aging.''; Dialogues Clin Neurosci, 2013 PubMed Europe PMC Scholia
75. Xu W, Schlüter OM, Steiner P, Czervionke BL, Sabatini B, Malenka RC; ''Molecular dissociation of the role of PSD-95 in regulating synaptic strength and LTD.''; Neuron, 2008 PubMed Europe PMC Scholia
76. Çaku A, Seidah NG, Lortie A, Gagné N, Perron P, Dubé J, Corbin F; ''New insights of altered lipid profile in Fragile X Syndrome.''; PLoS One, 2017 PubMed Europe PMC Scholia
77. Borrie SC, Brems H, Legius E, Bagni C; ''Cognitive Dysfunctions in Intellectual Disabilities: The Contributions of the Ras-MAPK and PI3K-AKT-mTOR Pathways.''; Annu Rev Genomics Hum Genet, 2017 PubMed Europe PMC Scholia
78. Wang H, Fukushima H, Kida S, Zhuo M; ''Ca2+/calmodulin-dependent protein kinase IV links group I metabotropic glutamate receptors to fragile X mental retardation protein in cingulate cortex.''; J Biol Chem, 2009 PubMed Europe PMC Scholia

History

External references

DataNodes

Name	Type	Database reference	Comment
ABAT	Rna	ENSG00000183044 (Ensembl)
ABCD3	GeneProduct	ENSG00000117528 (Ensembl)	ABCD3, a peroxisomal membrane protein, is involved in the transport of branched chain acyl-CoA into peroxisomes. ABCD3 is a fatty acid (FA) transporter protein.
AGAP2	GeneProduct	ENSG00000135439 (Ensembl)
AGO2	GeneProduct	ENSG00000123908 (Ensembl)
AKAP5	GeneProduct	ENSG00000179841 (Ensembl)	A-kinase anchor protein 5 (AKAP5) anchors protein kinase A (PKA) at the PSD by directly interacting with PSD-95. This interaction is important for NMDAR-dependant AMPAR endocytosis and LTD.
AKT1	GeneProduct	ENSG00000142208 (Ensembl)
AKT1S1	GeneProduct	ENSG00000204673 (Ensembl)
ALDH3A2	GeneProduct	ENSG00000072210 (Ensembl)	Fatty aldehyde dehydrogenase (ALDH3A2) catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. ALDH3A2 has shown to be essential for the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation.
ALDH5A1	Rna	ENSG00000112294 (Ensembl)
ANAPC10	GeneProduct	ENSG00000164162 (Ensembl)
ANAPC11	GeneProduct	ENSG00000141552 (Ensembl)
ANAPC13	GeneProduct	ENSG00000129055 (Ensembl)
ANAPC15	GeneProduct	ENSG00000110200 (Ensembl)
ANAPC16	GeneProduct	ENSG00000166295 (Ensembl)
ANAPC1	GeneProduct	ENSG00000153107 (Ensembl)
ANAPC2	GeneProduct	ENSG00000176248 (Ensembl)
ANAPC4	GeneProduct	ENSG00000053900 (Ensembl)
ANAPC5	GeneProduct	ENSG00000089053 (Ensembl)
ANAPC7	GeneProduct	ENSG00000196510 (Ensembl)
AP2A1	GeneProduct	ENSG00000196961 (Ensembl)
AP2B1	GeneProduct	ENSG00000006125 (Ensembl)
AP2M1	GeneProduct	ENSG00000161203 (Ensembl)
AP2S1	GeneProduct	ENSG00000042753 (Ensembl)
APP	GeneProduct	ENSG00000142192 (Ensembl)	Amyloid-beta precursor protein (APP), large membrane-spanning glycoprotein, is implicated in neurogenesis and synapse formation. It is mainly expressed in synapses. APP is suspected to contribute to altered mGluR-LTD. Type your comment here
ARAF	GeneProduct	ENSG00000078061 (Ensembl)
ARC	GeneProduct	ENSG00000198576 (Ensembl)	Activity-regulated cytoskeleton-associated protein (ARC) is a key regulator of synaptic plasticity. It is required for protein synthesis-dependent LTP and LTD as well as for the formation of long-term memory. ARC regulates synaptic plasticity by promoting endocytosis of AMPA receptors AMPAR and thus, LTD.
ARHGAP32	GeneProduct	ENSG00000134909 (Ensembl)	Rho GTPase activating protein 32 (ARHGAP32) is a neuron-associated GAP that may regulate dendritic spine morphology and strength through modulation of Rho GTPase activity.
BDNF	GeneProduct	ENSG00000176697 (Ensembl)
BRAF	GeneProduct	ENSG00000157764 (Ensembl)
CAMK1	GeneProduct	ENSG00000134072 (Ensembl)
CAMK2A	GeneProduct	ENSG00000070808 (Ensembl)	calcium/calmodulin dependent protein kinase II alpha (CAMKIIα) is expressed at synapses where its translation is negatively regulated by FMRP. CAMKIIα is a key determinant for AMPAR internalization and thus LTD. The protein kinase mediates AMPAR internalization through phosphorylation of AMPAR subunits. CAMKIIα is involved in synaptic plasticity, neurotransmitter release and LTP.
CAMK2B	GeneProduct	ENSG00000058404 (Ensembl)	CAMKII catalyzes the phosphorylation of AMPAR an
CAMK4	GeneProduct	ENSG00000152495 (Ensembl)	CAMK4 or CAMKIV
CAMKIV-CREB Pathway	Pathway
CDC23	GeneProduct	ENSG00000094880 (Ensembl)
CDC26	GeneProduct	ENSG00000176386 (Ensembl)
CDC6	GeneProduct	ENSG00000094804 (Ensembl)
CDKN2A	GeneProduct	ENSG00000147889 (Ensembl)	Cyclin-dependent kinase inhibitor 2A (CDKC2A)
CLTA	GeneProduct	ENSG00000122705 (Ensembl)
CLTB	GeneProduct	ENSG00000175416 (Ensembl)
CLTC	GeneProduct	ENSG00000141367 (Ensembl)	Clathrin mediates the endocytosis of NMDAR by binding to AP-2
CLTCL1	GeneProduct	ENSG00000070371 (Ensembl)
CNR1	GeneProduct	ENSG00000118432 (Ensembl)
CPT1A	GeneProduct	ENSG00000110090 (Ensembl)	CPT1A encodes the hepatic enzyme carnitine palmitoyltransferase 1A. The enzyme is responsible for fatty acid oxidation within the mitochondria, it connects carnitine to long-chain fatty acids thereby enabling the crossing of the fatty acid into the inner membrane of mitochondria. FMRP negatively regulates CPT1A and thus lipid metabolism.
CREB1	GeneProduct	ENSG00000118260 (Ensembl)
CYFIP1	GeneProduct	ENSG00000273749 (Ensembl)	CYFIP1 interacts with FMRP and with translation initiation factor eIF4E
CYFIP2	Rna	ENSG00000055163 (Ensembl)
Calcineurin	Protein
DAG1	GeneProduct	ENSG00000173402 (Ensembl)
DEPTOR	GeneProduct	ENSG00000155792 (Ensembl)
DICER1	GeneProduct	ENSG00000100697 (Ensembl)	DICER, is an endonuclease, which cleaves double stranded RNA (dsRNA) into short single stranded RNA called miRNA and tehreby faciliates the activation of RISC
DLG4	Rna	ENSG00000132535 (Ensembl)
DLGAP3	GeneProduct	ENSG00000116544 (Ensembl)	SAP90/PSD-95-associated protein 3 (SAPAP3) plays a role in the organization of synapses and neuronal cell signaling and is negatively regulated by FMRP. SAPAP3 is a postsynaptic scaffolding protein which is associated with PSD-95 and localized in dendrites. SAPAP3 plays an improtant role in maturation of synapses
DNM2	GeneProduct	ENSG00000079805 (Ensembl)	Dynamin is a large GTPase modulating release of endosomes from the membrane by pinching off and fissioning the membrane.
DUSP3	GeneProduct	ENSG00000108861 (Ensembl)	Also referred to as VHR, a ERK specific phosphatase
Dynamin-1	Protein	A0A0D9SFB1 (Uniprot-TrEMBL)
EEF1A1	GeneProduct	ENSG00000156508 (Ensembl)	Eukarytic translation elongation factor (EF1α)
EIF4A1	GeneProduct	ENSG00000161960 (Ensembl)
EIF4EBP2	GeneProduct	ENSG00000148730 (Ensembl)	Phosphorylates 4E-BP cannot bind to eIF4E anymore, this means that its inhibitory effect on translation is repressed
EIF4E	GeneProduct	ENSG00000151247 (Ensembl)
EIF4G1	GeneProduct	ENSG00000114867 (Ensembl)
EPHA4	GeneProduct	ENSG00000116106 (Ensembl)	Ephrin type-A receptor 4 (EPHA4) is a receptor tyrosine kinase binding tp ephrin ligands. EPHA4 is has a function in the development of the nervous system.
FMR1	GeneProduct	ENSG00000102081 (Ensembl)
FYN	GeneProduct	ENSG00000010810 (Ensembl)	Tyrosine-protein kinase Fyn (FYN) is a member of the Src family of tyrosine kinases which is involved in the regulation of brain function.
FZR1	GeneProduct	ENSG00000105325 (Ensembl)
GAB1	GeneProduct	ENSG00000109458 (Ensembl)
GABRA1	Rna	ENSG00000022355 (Ensembl)
GABRB2	Rna	ENSG00000145864 (Ensembl)
GABRD	Protein	ENSG00000187730 (Ensembl)
GABRG2	Rna	ENSG00000113327 (Ensembl)
GAD1	GeneProduct	ENSG00000128683 (Ensembl)	Glutamate decarboxylase 1 (GAD1) encoded an enzyme (glutamic acid decarboxylase) that has a role in γ-aminobutyric acid (GABA) synthesis. The enzyme catalyzes the production of GABA from L-glutamic acid.
GPHN	Rna	ENSG00000171723 (Ensembl)
GRB2	GeneProduct	ENSG00000177885 (Ensembl)
GRIA1	GeneProduct	ENSG00000155511 (Ensembl)	AMPAR subunit GuA1
GRIA2	GeneProduct	ENSG00000120251 (Ensembl)	AMPAR subunit GluA2
GRIN1	GeneProduct	ENSG00000176884 (Ensembl)
GRIN2A	GeneProduct	ENSG00000183454 (Ensembl)	NMDA receptor subunit 2 A
GRIN2B	GeneProduct	ENSG00000273079 (Ensembl)	N-methyl-D-aspartate (NMDA)-type glutamate receptors (NMDAR) are ionotropic receptors activated by glutamate. NMDAR activation allows Ca2+ influx leading to NMDAR-dependant LTP and LTD
GRIP1	GeneProduct	ENSG00000155974 (Ensembl)
GRIP2	GeneProduct	ENSG00000144596 (Ensembl)	Glutamate receptor-interacting protein 2 (GRIP2) also called AMPAR binding protein (ABP) interacts with GRIP1 to regulate AMPAR trafficking
GRM1	GeneProduct	ENSG00000152822 (Ensembl)
GRM5	Rna	ENSG00000168959 (Ensembl)
HCN1	GeneProduct	ENSG00000164588 (Ensembl)	Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 (HCN1)
HOMER1	GeneProduct	ENSG00000152413 (Ensembl)	The short splice variant of Homer, Homer1a, competes with Homer 1 for the binding site on mGluR. In FXS mouse model, Homer1a has been shown to associate more with mGluR than Homer1, thereby it disrupts mGluR signalling and causes constitutive, agonist-independent activity of Group I mGluR.
HOMER1	GeneProduct	HOMER1 (HGNC)	Long homer variant
HOXB8	GeneProduct	ENSG00000120068 (Ensembl)
ITPR1	GeneProduct	ENSG00000150995 (Ensembl)
KCNC1	GeneProduct	ENSG00000129159 (Ensembl)
KCND2	GeneProduct	ENSG00000184408 (Ensembl)
KRAS	GeneProduct	ENSG00000133703 (Ensembl)
MAP1B	GeneProduct	ENSG00000131711 (Ensembl)	Microtubule-associated protein 1B (MAP1B) is involved in mcirotubule assembly and neurogenesis. MAP1b is involved in the regulation of the morphology of dendritic spines in glutamatergic synapses. Furthermore, MAP1b is a negative regulator of AMPAR surface expression thereby contributing to mGluR-LTD.
MAP2K1	GeneProduct	ENSG00000169032 (Ensembl)
MAP2K2	GeneProduct	ENSG00000126934 (Ensembl)
MAPK1	GeneProduct	ENSG00000100030 (Ensembl)
MECP2	GeneProduct	ENSG00000169057 (Ensembl)	Methyl-CpG-binding protein 2 (MECP2) is a nuclear protein that is capable of binding to methylated DNA. It is essential for nerve cell functionality.
MEK-ERK-Mnk1 Pathway	Pathway		Activation of ERK pathway is required for mGlur-LTD. ERK activation is thought to control the activation of specific mRNAs such as the LTD proteins.
MKNK1	GeneProduct	ENSG00000079277 (Ensembl)
MLST8	GeneProduct	ENSG00000167965 (Ensembl)
MMP9	GeneProduct	ENSG00000100985 (Ensembl)
MTOR	GeneProduct	ENSG00000198793 (Ensembl)
NF1	GeneProduct	ENSG00000196712 (Ensembl)	NF1 functions as a guanine exchange factors (GEF), stimulating the conversion of GTP-bound RAS into GDP-bound RAS and tehreby negatively regulating the MEK-ERK-Mnk1 pathway.
NTRK2	GeneProduct	ENSG00000148053 (Ensembl)
PDK1	GeneProduct	ENSG00000152256 (Ensembl)
PI3K-Akt-mTOR Pathway	Pathway	WP3844 (WikiPathways)	Activation of mTOR pathway is required for mGlur-LTD. mTOR activation is believed to sustain the increase in overall rate of mRNA translation at the synapse.
PICK1	GeneProduct	PICK1 (HGNC)	Protein Interacting with Kinase C 1 (PICK1)
PIK3CB	GeneProduct	ENSG00000051382 (Ensembl)
PIP2	Metabolite	CHEBI:18348 (ChEBI)
PIP3	Metabolite	CHEBI:16618 (ChEBI)
PLCB1	GeneProduct	ENSG00000182621 (Ensembl)
PLCG1	GeneProduct	ENSG00000124181 (Ensembl)
PP1	Protein
PPP2R5B	GeneProduct	ENSG00000068971 (Ensembl)
PRKACA	GeneProduct	ENSG00000072062 (Ensembl)
PRKAR1A	GeneProduct	ENSG00000108946 (Ensembl)
PRKCA	GeneProduct	ENSG00000154229 (Ensembl)	Protein Kinase C mGluR activation leads to activation of the PLC pathway which induces release of Ca2+ and PKC. PKC will phohsphorylate and activate RAF1 and tehereby activate RAF1 and thus the ERK pathway
PTEN	Rna	ENSG00000171862 (Ensembl)	PTEN is enhanced by FMRP and negatively regulates GABA A receptor subunits, this way PTEN has a protective role in reducing GABA A deficiency-indiced incidence of seizures
PTPN11	GeneProduct	ENSG00000179295 (Ensembl)
PTPN5	GeneProduct	ENSG00000110786 (Ensembl)	Tyrosine-protein phosphatase non-receptor type 5 (STEP) is involves to regulate AMPAR trafficking and negatively regulates AMPAR surface expression thereby contributing to mGluR-LTD. STEP promotes LTD by stimulating synaptic weakening by dephosphorylation of ERK1/2 and subunits of NDMA and AMPA receptors. STEP has been shown to promote NMDA internalization.
RAF1	GeneProduct	ENSG00000132155 (Ensembl)
RAP1GAP	GeneProduct	ENSG00000076864 (Ensembl)	RAP1 is phsohprylated and activated by PKA and in turn stimulates the activation of B-Raf, thus leading to the activation of the ERK pathway
RHEB	GeneProduct	ENSG00000106615 (Ensembl)
RPS6KB1	GeneProduct	RPS6KB1 (HGNC)
RPTOR	GeneProduct	ENSG00000141564 (Ensembl)
SH3GL1	GeneProduct	ENSG00000141985 (Ensembl)	Endophoilin 2
SH3GL3	GeneProduct	ENSG00000140600 (Ensembl)	Endopilin 3
SHANK1	GeneProduct	ENSG00000161681 (Ensembl)	Shank, an adapter protein in the PSD of excitatory synapses, is necessary for the structural and functional integrity of dendritic spines and synaptic junction.
SHC1	GeneProduct	SHC1 (HGNC)
SLC16A1	GeneProduct	ENSG00000155380 (Ensembl)	Monocarboxylate transporter 1 (MCT1) is a proton coupled monocarboxylate transporter which function is to catalyse the rapid transport of many monocarboxylates across the plasma membrane.
SLC6A1	Rna	ENSG00000157103 (Ensembl)
SNAPC3	GeneProduct	ENSG00000164975 (Ensembl)
SOS1	GeneProduct	ENSG00000115904 (Ensembl)	SOS, a guanine-associated echange factor (GEF), activates Ras by inducing the exchange of GTDP by GTP. This positively regulates Ras signalling.
SRC	GeneProduct	ENSG00000197122 (Ensembl)
SYNGAP1	GeneProduct	ENSG00000197283 (Ensembl)
Stalled Polyribosomes
TARBP2	GeneProduct	ENSG00000139546 (Ensembl)
TBC1D7	GeneProduct	ENSG00000145979 (Ensembl)
TECR	GeneProduct	ENSG00000099797 (Ensembl)	Very-long-chain enoyl-CoA reductase (TECR) is responsible to catalyze the last of the four reactions of the long-chain fatty acids elongation cycle.
TELO2	GeneProduct	ENSG00000100726 (Ensembl)
TSC1	GeneProduct	ENSG00000165699 (Ensembl)
TSC2	GeneProduct	ENSG00000103197 (Ensembl)
TTI1	GeneProduct	ENSG00000101407 (Ensembl)
Ubiquination Signaling Pathway	Pathway
cAMP	Metabolite	CHEBI:17489 (ChEBI)
eCB Signalling	Pathway		eCB Signalling
endocannabinoids	Metabolite	CHEBI:67197 (ChEBI)
glutamate	Metabolite	CHEBI:14321 (ChEBI)
miR-125b	Rna	MIMAT0042091 (miRBase mature sequence)
miR-132	Rna
miR-196a	Rna	MIMAT0000226 (miRBase mature sequence)
γ-aminobutyric acid	Metabolite	CHEBI:16865 (ChEBI)	γ-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the central nervous system.

Annotated Interactions

No annotated interactions